Lista de obras -

Clinical features of hemolysis, elevated liver enzymes, and low platelet count syndrome in undiagnosed Wilson disease: report of two cases.

artículo científico publicado en 2009

Concordance rates of Wilson's disease phenotype among siblings.

artículo científico publicado en 2013

Early neurological worsening in patients with Wilson's disease.

artículo científico publicado en 2015

Erratum to: Concordance rates of Wilson’s disease phenotype among siblings.

artículo científico publicado en 2014

Erratum to: Treatment with d-penicillamine or zinc sulphate affects copper metabolism and improves but not normalizes antioxidant capacity parameters in Wilson disease.

artículo científico publicado en 2014

Families with Wilson's disease in subsequent generations: clinical and genetic analysis

scientific article published on 18 October 2014

Frequencies of initial gait disturbances and falls in 100 Wilson's disease patients.

artículo científico publicado en 2015

Gene variants encoding proteins involved in antioxidant defense system and the clinical expression of Wilson disease

artículo científico publicado en 2014

Genetic variability in the methylenetetrahydrofolate reductase gene (MTHFR) affects clinical expression of Wilson's disease

artículo científico publicado en 2011

Liver cirrhosis in patients newly diagnosed with neurological phenotype of Wilson's disease

artículo científico publicado en 2014

Measurement of urinary copper excretion after 48-h d-penicillamine cessation as a compliance assessment in Wilson's disease

artículo científico publicado en 2015

Monozygotic female twins discordant for phenotype of Wilson's disease

artículo científico publicado en 2009

Persistence with treatment in patients with Wilson disease

artículo científico publicado en 2010

Treatment with D-penicillamine or zinc sulphate affects copper metabolism and improves but not normalizes antioxidant capacity parameters in Wilson disease

scientific article published on 25 December 2013

Wilson disease: neurologic features.

artículo científico publicado en 2017

Wilson's disease - a case report

artículo científico publicado en 2016

p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease.

artículo científico publicado en 2006

Lista de obras de

Clinical features of hemolysis, elevated liver enzymes, and low platelet count syndrome in undiagnosed Wilson disease: report of two cases.

Concordance rates of Wilson's disease phenotype among siblings.

Early neurological worsening in patients with Wilson's disease.

Erratum to: Concordance rates of Wilson’s disease phenotype among siblings.

Erratum to: Treatment with d-penicillamine or zinc sulphate affects copper metabolism and improves but not normalizes antioxidant capacity parameters in Wilson disease.

Families with Wilson's disease in subsequent generations: clinical and genetic analysis

Frequencies of initial gait disturbances and falls in 100 Wilson's disease patients.

Gene variants encoding proteins involved in antioxidant defense system and the clinical expression of Wilson disease

Genetic variability in the methylenetetrahydrofolate reductase gene (MTHFR) affects clinical expression of Wilson's disease

Liver cirrhosis in patients newly diagnosed with neurological phenotype of Wilson's disease

Measurement of urinary copper excretion after 48-h d-penicillamine cessation as a compliance assessment in Wilson's disease

Monozygotic female twins discordant for phenotype of Wilson's disease

Persistence with treatment in patients with Wilson disease

Treatment with D-penicillamine or zinc sulphate affects copper metabolism and improves but not normalizes antioxidant capacity parameters in Wilson disease

Wilson disease: neurologic features.

Wilson's disease - a case report

p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease.